Canonical Allele Identifier: CA3266643922
Community Standard Title: NM_000038.6(APC):c.4336_6050dup (p.Pro2018LeufsTer27)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839930_112841644dup , CM000667.2:g.112839930_112841644dup GRCh38
NC_000005.9:g.112175627_112177341dup , CM000667.1:g.112175627_112177341dup GRCh37
NC_000005.8:g.112203526_112205240dup NCBI36
NG_008481.4:g.152410_154124dup , LRG_130:g.152410_154124dup

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4336_6050dup MANE Select NP_000029.2:p.Pro2018LeufsTer27
ENST00000257430.9:c.4336_6050dup MANE Select ENSP00000257430.4:p.Pro2018LeufsTer27
NM_000038.5:c.4336_6050dup NP_000029.2:p.Pro2018LeufsTer27
NM_001127510.2:c.4336_6050dup NP_001120982.1:p.Pro2018LeufsTer27
NM_001127510.3:c.4336_6050dup NP_001120982.1:p.Pro2018LeufsTer27
NM_001127511.2:c.4282_5996dup NP_001120983.2:p.Pro2000LeufsTer27
NM_001127511.3:c.4282_5996dup NP_001120983.2:p.Pro2000LeufsTer27
NM_001354895.1:c.4336_6050dup NP_001341824.1:p.Pro2018LeufsTer27
NM_001354895.2:c.4336_6050dup NP_001341824.1:p.Pro2018LeufsTer27
NM_001354896.1:c.4390_6104dup NP_001341825.1:p.Pro2036LeufsTer27
NM_001354896.2:c.4390_6104dup NP_001341825.1:p.Pro2036LeufsTer27
NM_001354897.1:c.4366_6080dup NP_001341826.1:p.Pro2028LeufsTer27
NM_001354897.2:c.4366_6080dup NP_001341826.1:p.Pro2028LeufsTer27
NM_001354898.1:c.4261_5975dup NP_001341827.1:p.Pro1993LeufsTer27
NM_001354898.2:c.4261_5975dup NP_001341827.1:p.Pro1993LeufsTer27
NM_001354899.1:c.4252_5966dup NP_001341828.1:p.Pro1990LeufsTer27
NM_001354899.2:c.4252_5966dup NP_001341828.1:p.Pro1990LeufsTer27
NM_001354900.1:c.4213_5927dup NP_001341829.1:p.Pro1977LeufsTer27
NM_001354900.2:c.4213_5927dup NP_001341829.1:p.Pro1977LeufsTer27
NM_001354901.1:c.4159_5873dup NP_001341830.1:p.Pro1959LeufsTer27
NM_001354901.2:c.4159_5873dup NP_001341830.1:p.Pro1959LeufsTer27
NM_001354902.1:c.4063_5777dup NP_001341831.1:p.Pro1927LeufsTer27
NM_001354902.2:c.4063_5777dup NP_001341831.1:p.Pro1927LeufsTer27
NM_001354903.1:c.4033_5747dup NP_001341832.1:p.Pro1917LeufsTer27
NM_001354903.2:c.4033_5747dup NP_001341832.1:p.Pro1917LeufsTer27
NM_001354904.1:c.3958_5672dup NP_001341833.1:p.Pro1892LeufsTer27
NM_001354904.2:c.3958_5672dup NP_001341833.1:p.Pro1892LeufsTer27
NM_001354905.1:c.3856_5570dup NP_001341834.1:p.Pro1858LeufsTer27
NM_001354905.2:c.3856_5570dup NP_001341834.1:p.Pro1858LeufsTer27
NM_001354906.1:c.3487_5201dup NP_001341835.1:p.Pro1735LeufsTer27
NM_001354906.2:c.3487_5201dup NP_001341835.1:p.Pro1735LeufsTer27
ENST00000257430.8:c.4336_6050dup ENSP00000257430.4:p.Pro2018LeufsTer27
ENST00000504915.3:c.4390_6104dup ENSP00000473355.2:p.Pro2036LeufsTer27
ENST00000505350.2:c.*4342_*6056dup ENSP00000481752.1:n.*4342_*6056dup
ENST00000507379.6:c.4282_5996dup ENSP00000423224.2:p.Pro2000LeufsTer27
ENST00000508376.6:c.4336_6050dup ENSP00000427089.2:p.Pro2018LeufsTer27
ENST00000508624.5:c.*3658_*5372dup ENSP00000424265.1:n.*3658_*5372dup
ENST00000509732.6:c.4336_6050dup ENSP00000426541.2:p.Pro2018LeufsTer27
ENST00000512211.7:c.4336_6050dup ENSP00000423828.3:p.Pro2018LeufsTer27
ENST00000520401.1:c.230+10958_230+12672dup